NDLI: Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

Content Provider	Springer Nature Link
Author	Kolb, Luis E. Arlier, Zulfikar Yalcinkaya, Cengiz Ozturk, Ali K. Moliter, Jennifer A. Erturk, Ozdem Bayrakli, Fatih Korkmaz, Baris DiLuna, Michael L. Yasu, Katsuhito Bilguvar, Kaya Ozcelik, Tayfun Tuysuz, Beyhan State, Matthew W. Gunel, Murat
Copyright Year	2010
Abstract	Congenital ataxia with cerebellar hypoplasia is a heterogeneous group of disorders that presents with motor disability, hypotonia, incoordination, and impaired motor development. Among these, disequilibrium syndrome describes a constellation of findings including non-progressive cerebellar ataxia, mental retardation, and cerebellar hypoplasia following an autosomal recessive pattern of inheritance and can be caused by mutations in the Very Low Density Lipoprotein Receptor (VLDLR). Interestingly, while the majority of patients with VLDL-associated cerebellar hypoplasia in the literature use bipedal gait, the previously reported patients of Turkish decent have demonstrated similar neurological sequelae, but rely on quadrupedal gait. We present a consanguinous Turkish family with two siblings with cerebellar atrophy, predominantly frontal pachygyria and ataxic bipedal gait, who were found to have a novel homozygous deletion in the VLDLR gene identified by using high-density single nucleotide polymorphism microarrays for homozygosity mapping and identification of CNVs within these regions. Discovery of disease causing homozygous deletions in the present Turkish family capable of maintaining bipedal movement exemplifies the phenotypic heterogeneity of VLDLR-associated cerebellar hypoplasia and ataxia.
Starting Page	319
Ending Page	325
Page Count	7
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	11
Issue Number	3
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2010-01-15
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	VLDLR Cerebellar hypoplasia Pachygyria Disequilibrium syndrome Neurosciences Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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